Article

Phenotypic Findings Associated with Variation in Elastin

2024-09-12

Abstract excerpt

Variation in the elastin gene ( ELN ) may contribute to connective tissue disease beyond the known disease associations of Supravalvar Aortic Stenosis and Cutis Laxa. Exome data from MyCode Community Health Initiative participants were analyzed for ELN rare variants (mean allele frequency <1%, not currently annotated as benign). Participants with variants of interest underwent phenotyping by dual chart review usin...

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Literature Corpus work: 5f97d449-11e2-5184-ba50-0714e436058c
DOI: 10.1101/2024.09.10.24313340

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